Epidermolysis Bullosa is a set of genetically inherited conditions affecting 1 in 17,000 of the population. A fault in a gene causes the skin to be extremely fragile. The layers of the skin do not adhere properly and painful widespread blisters occur very easily. These can lead to increasing disfigurement, disability and in the most severe forms death in early childhood.

The different forms of EB are caused by molecular abnormalities (mutations) in many genes encoding the proteins which provide the strength to hold the layers of the skin together at the junction between the dermis and the epidermis, called the cutaneous basement membrane.

The ability to readily and rapidly detect these mutations is important:

1. To be able to correlate genotype with phenotype. This will increase understanding of the cellular mechanisms that cause skin fragility.

2. To allow the possibility of DNA - based pre-natal diagnosis to be more widely available.

3. To provide a fundamental basis for the design of future gene therapy.

The present methods of detecting these mutations "sequencing" is slow, labour intensive and severely limits the amount of work done.